Phenotype #0000021987

Individual ID	00025917
Associated disease	CHIME;GPIBD5
Phenotype details	Phenotype included a migratory ichthyosiform dermatosis, multiple skin infections and infestations, bilateral retinal coloboma, developmental delay, seizures, infantile macrosomia, facial anomalies, a duplicated renal collecting system, and conductive hearing loss. Histologic examination of the skin findings of an epidermal nevus with deep rete pegs, hyperkeratosis, and a markedly increased granular layer. The patient developped acute lymphoblastic leukemia at age 4 1/2 years.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2014-12-04 22:41:34 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD